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Science 8 May 1992:
Vol. 256. no. 5058, pp. 784 - 789
DOI: 10.1126/science.256.5058.784
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Articles

Science, Vol 256, Issue 5058, 784-789
Copyright © 1992 by American Association for the Advancement of Science

articles

Triplet repeat mutations in human disease

CT Caskey, A Pizzuti, YH Fu, RG Fenwick Jr, and DL Nelson

Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.

Triplet repeats are the sites of mutation in three human heritable disorders, spinal and bulbar muscular atrophy (SBMA), fragile X syndrome, and myotonic dystrophy (DM). These repeats are GC-rich and highly polymorphic in the normal population. Fragile X syndrome and DM are examples of diseases in which premutation alleles cause little or no disease in the individual, but give rise to significantly amplified repeats in affected progeny. This newly identified mechanism of mutation has, so far, been identified in two of the most common heritable disorders, fragile X syndrome and DM, and one rare disease, SBMA.


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